Alpha-1 Antitrypsin Deficiency and Tobacco Smoking: Exploring Risk Factors and Smoking Cessation in a Registry Population

Franciosi, Alessandro N; Alkhunaizi, Mansour A; Woodsmith, Andrew; Aldaihani, Layali; Alkandari, Hamad; Lee, Siobhán E; Fee, Laura; McElvaney, Noel G.; Carroll, Tomás P.

doi:10.1080/15412555.2020.1864725

Cited by 16 publications

(12 citation statements)

References 28 publications

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“…In a recently published study by Franciosi et al . [17,18], of 293 Irish people with AATD [ZZ ( n = 230); SZ ( n = 72); and MZ ( n = 91)], the authors found that increasing genotype severity corresponded with a lower likelihood of current smoking status (2.5% vs. 17% vs. 16% for ZZ, SZ, and MZ, respectively). Another previously published prospective study that followed patients for 3 months also suggested that a diagnosis of ZZ-AATD resulted in greater abstinence and reduced tobacco consumption compared with non-AATD smokers [19].…”

Section: Discussionmentioning

confidence: 99%

Disease progression in patients with PI*ZZ alpha-1 antitrypsin deficiency

Shen¹,

Lyu

Sengupta

et al. 2022

European Journal of Gastroenterology &Amp; Hepatology

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Background and objective Alpha-1 antitrypsin deficiency (AATD) is an uncommon but underdiagnosed cause of cirrhosis and lacks medical treatment options. It is important to recognize risk factors that contribute to disease progression and liver transplantation. We aimed to assess if age, sex, or smoking status was associated with liver or lung disease progression. Methods Forty-three patients with ZZ-AATD cirrhosis were consecutively sampled from an Institutional Review Board-approved registry of 240 patients with AATD of any genotype seen as outpatients in the Cleveland Clinic between 1999 and 2019. To determine the association between risk factors and lung or liver disease progression, linear mixed-effects models with fixed effects for linear time, risk factor, and time-by-risk factor interaction, and the random intercepts for intra-patient correlation were used. Results Based on the mixed-effects model analysis, there was a significant association between liver disease progression and smoking history, and no association with age or sex. There was no association between lung disease progression and age, sex, or smoking history. However, smoking history was significantly associated with lower forced expiratory volume values. Conclusion This study found that in a cohort of patients with PI*ZZ genotype AATD (ZZ-AATD) and cirrhosis, smoking history was associated with liver disease progression, whereas age and sex were not.

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Section: Discussionmentioning

confidence: 99%

Disease progression in patients with PI*ZZ alpha-1 antitrypsin deficiency

Shen¹,

Lyu

Sengupta

et al. 2022

European Journal of Gastroenterology &Amp; Hepatology

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Section: Discussionmentioning

confidence: 99%

“…45 These findings indicate that MZ carriers, despite having a less risky genetic predisposition than ZZs to develop AATD-related diseases, may need an intensification of education and medical interventions aimed at promoting healthy lifestyles after diagnosis. 45,46 MZ heterozygotes express serum levels of AAT of 11-28 µM/L (or 62-151 mg/dL), which are approximately 60% of the normal range of MM [20-53 µmol/L (102-254)]. 4 This means that the vast majority of MZ heterozygotes express serum levels above the empirically established "protective threshold" of lungs against neutrophil elastase (ie, 11 μM/L or 57 mg/dL), a historical value mainly used to indicate augmentation therapy in emphysematous patients with severe AATD.…”

mentioning

confidence: 99%

Estimated Prevalence and Number of PiMZ Genotypes of Alpha-1 Antitrypsin in Seventy-Four Countries Worldwide

Martínez-González¹,

Blanco²,

Diego³

et al. 2021

COPD

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Background The α-1 antitrypsin (AAT) protease inhibitor PiMZ is a moderately deficient genotype, until recently considered of little or negligible risk. However, a growing number of studies show that MZ carriers have an increased risk of developing lung and liver diseases, if exposed to smoking or other airborne or industrial pollutants, and hepatotoxic substances. Methods We used the epidemiological studies performed to determine the frequencies of PiM and PiZ worldwide, based on the following criteria: 1) samples representative of the general population; 2) AAT phenotyping or genotyping characterized by adequate methods, including isoelectric focusing and polymerase chain reaction; and 3) studies with reliable results assessed with a coefficient of variation calculated from the sample size and 95% confidence intervals, to measure the precision of the results in terms of dispersion of the data around the mean. Results The present review reveals an impressive number of MZs of more than 35 million in 74 countries of the world with available data. Seventy-five percent of them are people of Caucasian European heritage, mostly living in Europe, America, Australia and New Zealand. Twenty percent of the remaining MZs live in Asia, with the highest concentrations in the Middle East, Eastern¸ Southern, and South-eastern regions of the Asian continent. The remaining five percent are Africans residing in Western and Eastern Africa. Conclusion Considering the high rate of smoking, the outdoor and the indoor air pollution from solid fuels used in cooking and heating, and the exposure to industrial dusts and chemicals in many of these countries, these figures are very worrying, and hence the importance of adequately assessing MZ subjects, recommending them rigorous preventive measures based on the adoption of healthy lifestyles, including avoidance of smoking and alcohol.

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“…Risk factors for developing lung morbidity in individuals with AATD were reported in 10 studies. Smoking was cited as a risk factor in six studies [26,35,[47][48][49][50], and current smoking, age (40-59 years) and frequent severe exacerbations of COPD were associated with an accelerated decline of FEV 1 in individuals with severe AATD [26,35]. The remaining studies did not examine the influence of smoking on risk.…”

Section: Clinical Burden Reviewmentioning

confidence: 99%

Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews

Miravitlles

Herepath²,

Priyendu

et al. 2022

Eur Respir Rev

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Alpha-1 antitrypsin deficiency (AATD) is a rare genetic disorder characterised by reduced levels of circulating alpha-1 antitrypsin and an increased risk of lung and liver disease. Recent reviews of AATD have focused on diagnosis, epidemiology and clinical management; comprehensive reviews examining disease burden are lacking. Therefore, we conducted literature reviews to investigate the AATD disease burden for patients, caregivers and healthcare systems. Embase, PubMed and Cochrane libraries were searched for AATD publications from database inception to June 2021, in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Most published AATD studies were small and short in duration, with variations in populations, designs, measures and outcomes, complicating cross-study comparisons. AATD was associated with significant pulmonary and hepatic morbidity. COPD, emphysema and bronchiectasis were common lung morbidities, where smoking was a key risk factor. Fibrosis and steatosis were the most common liver complications reported in patients with a PiZ allele. Health status analyses suggested a poorer quality of life for AATD patients diagnosed with COPD versus those with non-AATD-associated COPD. The burden for caregivers included loss of personal time due to caring responsibilities, stress and anxiety. AATD was also associated with high direct medical costs and healthcare resource utilisation.

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Alpha-1 Antitrypsin Deficiency and Tobacco Smoking: Exploring Risk Factors and Smoking Cessation in a Registry Population

Cited by 16 publications

References 28 publications

Disease progression in patients with PI*ZZ alpha-1 antitrypsin deficiency

Disease progression in patients with PI*ZZ alpha-1 antitrypsin deficiency

Estimated Prevalence and Number of PiMZ Genotypes of Alpha-1 Antitrypsin in Seventy-Four Countries Worldwide

Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews

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